{"id":2290,"date":"2023-05-29T13:13:53","date_gmt":"2023-05-29T17:13:53","guid":{"rendered":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/?page_id=2290"},"modified":"2025-05-20T16:42:57","modified_gmt":"2025-05-20T20:42:57","slug":"what-is-mps","status":"publish","type":"page","link":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/what-is-mps\/","title":{"rendered":"What is MPS?"},"content":{"rendered":"<som-cell cell-info=\"{&quot;ID&quot;:4150,&quot;post_author&quot;:&quot;119071&quot;,&quot;post_date&quot;:&quot;2025-05-20 15:51:37&quot;,&quot;post_date_gmt&quot;:&quot;2025-05-20 19:51:37&quot;,&quot;post_content&quot;:&quot;&quot;,&quot;post_title&quot;:&quot;What is MPS?&quot;,&quot;post_excerpt&quot;:&quot;&quot;,&quot;post_status&quot;:&quot;publish&quot;,&quot;comment_status&quot;:&quot;closed&quot;,&quot;ping_status&quot;:&quot;closed&quot;,&quot;post_password&quot;:&quot;&quot;,&quot;post_name&quot;:&quot;what-is-mps&quot;,&quot;to_ping&quot;:&quot;&quot;,&quot;pinged&quot;:&quot;&quot;,&quot;post_modified&quot;:&quot;2025-05-28 09:39:03&quot;,&quot;post_modified_gmt&quot;:&quot;2025-05-28 13:39:03&quot;,&quot;post_content_filtered&quot;:&quot;&quot;,&quot;post_parent&quot;:0,&quot;guid&quot;:&quot;https:\\\/\\\/www.med.unc.edu\\\/pediatrics\\\/muenzer-mps-center\\\/cell\\\/what-is-mps\\\/&quot;,&quot;menu_order&quot;:0,&quot;post_type&quot;:&quot;somcell&quot;,&quot;post_mime_type&quot;:&quot;&quot;,&quot;comment_count&quot;:&quot;0&quot;,&quot;filter&quot;:&quot;raw&quot;}\" cell-meta=\"{&quot;_upd_sortorder&quot;:[&quot;1&quot;],&quot;layout&quot;:[&quot;SingleCellBlocks&quot;],&quot;cellInformation&quot;:[&quot;{\\&quot;singleCellBlocks\\&quot;:{\\&quot;ctaOption\\&quot;:0,\\&quot;cellHeader\\&quot;:\\&quot;MPS Defined\\&quot;,\\&quot;cellContent\\&quot;:\\&quot;Mucopolysaccharidoses (MPS) are a group of ultra-rare genetic disorders. Individuals with MPS are missing a specific enzyme involved in the breakdown\\\/recycling of glycosaminoglycans (GAGs), which are long chains of complex carbohydrates found within cells throughout the body and the brain. If these GAGs are not broken down, they build up in cells, causing permanent, progressive cellular damage that can affect multiple body systems (e.g, bones, joints, heart, airway, facial features, hearing, cognitive abilities, and mobility) and may lead to a shortened life span. \\&quot;,\\&quot;textBlockLayout\\&quot;:\\&quot;right\\&quot;,\\&quot;backgroundColor\\&quot;:\\&quot;lightBlue\\&quot;,\\&quot;blockImage\\&quot;:\\&quot;https:\\\/\\\/www.med.unc.edu\\\/pediatrics\\\/muenzer-mps-center\\\/wp-content\\\/uploads\\\/sites\\\/1312\\\/2025\\\/05\\\/JoJo-mist.jpeg\\&quot;,\\&quot;ctaLink\\&quot;:\\&quot;https:\\\/\\\/www.med.unc.edu\\\/pediatrics\\\/muenzer-mps-center\\\/what-is-mps\\\/\\&quot;,\\&quot;imagePercent\\&quot;:50,\\&quot;imageMinHeight\\&quot;:350,\\&quot;mediaType\\&quot;:\\&quot;image\\&quot;,\\&quot;textAlignment\\&quot;:\\&quot;left\\&quot;,\\&quot;titleAccent\\&quot;:1,\\&quot;cellText\\&quot;:\\&quot;Mucopolysaccharidoses (MPS) are a group of ultra-rare genetic disorders. Individuals with MPS are missing a specific enzyme involved in the breakdown\\\/recycling of glycosaminoglycans (GAGs), which are long chains of complex carbohydrates found within cells throughout the body and the brain. If these GAGs are not broken down, they build up in cells, causing permanent, progressive cellular damage that can affect multiple body systems (e.g, bones, joints, heart, airway, facial features, hearing, cognitive abilities, and mobility) and may lead to a shortened life span.\\&quot;,\\&quot;textOverlay\\&quot;:1,\\&quot;foregroundImage\\&quot;:1,\\&quot;backgroundImageAlignmentX\\&quot;:\\&quot;center\\&quot;,\\&quot;backgroundImageAlignmentY\\&quot;:\\&quot;center\\&quot;},\\&quot;repeatableBoxes\\&quot;:[],\\&quot;blockType\\&quot;:\\&quot;imageBlocks\\&quot;,\\&quot;blockStyle\\&quot;:\\&quot;halfImage\\&quot;}&quot;],&quot;apiCallInformation&quot;:[&quot;{}&quot;]}\"><\/som-cell>\n<h2 class=\"section-som\"><span>Presentation by Dr. Muenzer Reviewing the Types of MPS<\/span><\/h2>\n\n<!-- iframe plugin v.5.2 wordpress.org\/plugins\/iframe\/ -->\n<iframe loading=\"lazy\" width=\"1120\" height=\"550\" src=\"https:\/\/www.youtube.com\/embed\/jprCpWVp_4g?si=Wc92uNmTOx5nq72j&#038;amp;controls=0\" title=\"Presentation by Dr. Muenzer Reviewing the Types of MPS\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" 0=\"allowfullscreen\" scrolling=\"yes\" class=\"iframe-class\"><\/iframe>\n\n<hr \/>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-2725 alignright\" src=\"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-content\/uploads\/sites\/1312\/2023\/11\/Screenshot-2023-11-08-at-5.20.55-PM-e1699482220101.png\" alt=\"\" width=\"306\" height=\"399\" \/><\/p>\n<h2>Dr. Muenzer&#8217;s Research<\/h2>\n<p>Dr. Muenzer\u2019s research includes progressive brain disease in children with MPS II, also known as Hunter Syndrome, and developing new avenues of treatment for children with MPS, including clinical trials to test new forms of intravenous enzyme replacement therapy as well as alternative therapies, such as gene therapy and intrathecal drug delivery devices.<\/p>\n<p>In 2018, Muenzer was a key investigator to administer a gene therapy treatment to patients with MPS II. He developed a mouse model for MPS II at ΄σΟσ΄«Γ½ two decades ago to help develop therapies for this rare disorder. His dedication to the patients and families of MPS is unparalleled. He is beloved for his dedication to advocate, care and finding better treatments for MPS patients. He is world-renowned in his field and the naming of the MPS center is appropriate and well-deserved for a life spent dedicated to MPS research and treatment.<\/p>\n<p>&nbsp;<\/p>\n<h2>Types of MPS and their subtypes<\/h2>\n<div role=\"tablist\" class=\"panel-group mps oscitas-bootstrap-container\" id=\"unc-accordion-0\">\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-0\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-0\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-0\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-0\">\n                MPS 1 H (Hurler syndrome)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-0\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\"> MPS 1H is also to referred to as Hurler syndrome. Hurler syndrome is caused by a mutation in the alpha L-iduronidase enzyme. This mutation causes the body to not produce a sufficient count of glycosaminoglycan enzymes to break down complex sugars. When sugars are not catabolized, or broken down, they accumulate in the lysosomes leading to a lysosomal storage condition. Because the lysosomes regulate the storage, degradation, and digestion of cellular waste, when glycosaminoglycans accumulate in the cell, it causes cellular malfunction leading to the symptoms we see in Hurler syndrome.<\/p>\n<p>Hurler Syndrome is the most severe form of MPS 1 and it is apparent in 1 in every 100,000 births.<\/p>\n<p><strong>Symptoms of Hurler syndrome:<\/strong><\/p>\n<ul>\n<li>Heart disease<\/li>\n<li>Enlarged organs (spleen, liver, heart, tonsils)<\/li>\n<li>Respiratory infections<\/li>\n<li>Hernias<\/li>\n<li>Glaucoma<\/li>\n<li>Hydrocephalus<\/li>\n<li>Hearing loss<\/li>\n<li>Carpal tunnel<\/li>\n<li>Joint disease, resulting in stiffness<\/li>\n<li>Intellectual disability<\/li>\n<\/ul>\n<p><strong>Physicalities:<\/strong><\/p>\n<ul>\n<li>Low nasal bridge<\/li>\n<li>Dysostosis (abnormal bone growth)<\/li>\n<li>Delayed growth<\/li>\n<li>Large head<\/li>\n<\/ul>\n<\/div>\n\n    <\/div>\n        \n<\/div>\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-1\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-1\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-1\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-1\">\n                MPS I H\/S (Hurler-Scheie syndrome)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-1\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\">MPS 1 H\/S is also referred to as Hurler\/Scheie syndrome. Hurler Scheie syndrome is an intermediate form of MPS 1H (Hurler syndrome).<\/p>\n<h4>What&#8217;s the Difference Between MPS 1 H and MPS 1 H\/S?<\/h4>\n<p>The symptoms of Hurler Scheie syndrome manifests slower and later than the symptoms of Hurler syndrome. Variation in symptoms are dependent on each person. However, children diagnosed with Hurler Scheie syndrome are more likely to have an average life expectancy with intellectual disabilities appearing more gradually.\u00a0<\/div>\n\n    <\/div>\n        \n<\/div>\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-2\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-2\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-2\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-2\">\n                MPS I S (Scheie syndrome)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-2\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\">MPS 1 S is also referred to as Scheie syndrome. Scheie syndrome is an attenuated form of MPS 1, characterized by milder manifestations of MPS 1 syndrome.<\/p>\n<p>Diagnosis is most common in adolescence and usually stems from symptoms of joint contracture and hernias. Cognitive function is usually normal for this subtype and patients are expected to have an average life expectancy.<\/p>\n<p>&nbsp;<\/p>\n<\/div>\n\n    <\/div>\n        \n<\/div>\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-3\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-3\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-3\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-3\">\n                MPS II (Hunter Syndrome)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-3\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\"> Hunter syndrome is a genetic disorder caused by a mutation in the IDS gene. The IDS gene is responsible for the degradation of the glycosaminoglycan sugar molecules. When glycosaminoglycans cannot be broken down, they accumulate in the cell, causing cellular malfunction leading to the symptoms we see in Hunter syndrome.<\/p>\n<p>The IDS-gene is an X-chromosome gene. Chromosomes determine sex of the fetus. The X chromosome is passed down from the mother and the Y chromosome is passed from the father. That stated, Hunters syndrome is inherited from the mother who does not show symptoms, but carries the mutation. It is most commonly seen in males.<\/p>\n<p>Hunter syndromes is placed in two categories: early and slowly progressive. The onset of symptoms and prognosis determine each category.<\/p>\n<p>Hunter syndrome is seen in approximately 1 in every 100,000 to 170,000 births.<\/p>\n<p><strong>Symptoms of Hunter syndrome:<\/strong><\/p>\n<ul>\n<li>Carpal tunnel<\/li>\n<li>Joint disease, resulting in stiffness<\/li>\n<li>Intellectual disability<\/li>\n<li>Deafness<\/li>\n<li>Recurrent ear infections<\/li>\n<li>Hernia<\/li>\n<li>Enlarged spleen and liver<\/li>\n<li>Cardiac disease<\/li>\n<li>Hip dysplasia<\/li>\n<\/ul>\n<p><strong>Physicalities:<\/strong><\/p>\n<ul>\n<li>Large head<\/li>\n<li>Excessive hair growth<\/li>\n<li>Delayed growth<\/li>\n<li>Larger facial features<\/li>\n<li>Wide chest<\/li>\n<li>Short neck<\/li>\n<\/ul>\n<\/div>\n\n    <\/div>\n        \n<\/div>\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-4\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-4\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-4\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-4\">\n                MPS III A, B, C, and D (Sanfilippo syndrome)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-4\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\"> Sanfilippo syndrome is an inherited genetic disorder caused by a mutation in the ability to catabolize heparan sulfate. Heparin sulfate is a polysaccharide (complex sugar molecule) responsible for cellular interaction. Without the proper enzyme to break down the sugar, heparin sulfate accumulates in the cell leading to a lysosomal storage condition. Because the lysosomes regulate the storage, degradation, and digestion of cellular waste, when glycosaminoglycans accumulate in the cell, it causes cellular malfunction leading to the symptoms we see in Sanfilippo syndrome.<\/p>\n<p>There are four enzymes responsible for the catabolization of heparin sulfate. Each enzyme is associated with a different subtype of Sanfilippo syndrome, subtype A, B, C, and D.<\/p>\n<ol>\n<li><strong>Subtype A:<\/strong> Sulfamidase deficiency\n<ul>\n<li>Higher prevalence with most severe symptoms affect 1 in every 100,000 children. Symptoms have earlier onset and faster progression with inability to walk and talk within the first 2 years of life.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Subtype B:<\/strong> <em>\u03b1<\/em>&#8211;<em>N<\/em>-acetylhexosaminidase deficiency\n<ul style=\"list-style-type: circle\">\n<li>Effecting approximately 1 in every 200,000 births. Symptoms appear later than Subtype A with less progression.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Subtype C:<\/strong> Acetyl-CoA:<em>\u03b1<\/em>-glucosamide <em>N<\/em>-acetyltransferase mutation\n<ul style=\"list-style-type: circle\">\n<li>Least prevalent effecting approximately 1 in every 1.5 million children. Symptoms appear later with a variation in symptoms<\/li>\n<\/ul>\n<\/li>\n<li><strong>Subtype D:<\/strong> <em>N<\/em>-acetylglucosamine-6-sulfate deficiency\n<ul style=\"list-style-type: circle\">\n<li>Least prevalent effecting approximately 1 in every 1.5 million children. Symptoms appear later with a variation in symptoms<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n<p><strong>Symptoms of Sanfilippo syndrome:<\/strong><\/p>\n<ul>\n<li>Intellectual disabilities<\/li>\n<li>Arthritis<\/li>\n<li>Deafness<\/li>\n<li>Enlarged liver and spleen<\/li>\n<li>Hernia<\/li>\n<li>Seizures<\/li>\n<li>Developmental regression<\/li>\n<li>Cornea clouding<\/li>\n<li>Sinus infections<\/li>\n<li>Ear infections<\/li>\n<li>Diarrhea<\/li>\n<li>Hyperactivity<\/li>\n<li>Sleep disturbances<\/li>\n<\/ul>\n<p><strong>Physicalities:<\/strong><\/p>\n<ul>\n<li>Larger head<\/li>\n<li>Delayed growth<\/li>\n<li>Excessive hair growth<\/li>\n<\/ul>\n<\/div>\n\n    <\/div>\n        \n<\/div>\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-5\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-5\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-5\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-5\">\n                MPS IV A and B (Morquio syndrome)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-5\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\">Morquio syndrome is an inherited disorder caused by the inability to break down keratan sulfate. Keratan sulfate is a polysaccharide (complex sugar) that controls cellular growth, cellular adhesion, and clot disruption. Without enough keratan sulfate, the sugar cannot perform its job and mucopolysaccharides flood into the lysosomes. Because the body does not produce enzymes for the degradation of lysosomal enzymes, mucopolysaccharides aggregate intracellularly and in connective tissues. The excessive amount of mucopolysaccharides causes cellular degradation leading to skeletal dysplasia.<\/p>\n<p>There are two genes involved in cellular degradation of keratin sulfate. Each enzyme is associated with a different subtype of Morquio syndrome, subtype A and B.<\/p>\n<ol>\n<li><strong>Subtype A:<\/strong> N-acetyl galactosamine-6-sulfatase mutation<\/li>\n<li><strong>Subtype B:<\/strong> \u03b2-galactosidase mutation<\/li>\n<\/ol>\n<p><strong>Symptoms of Morquio syndrome:<\/strong><\/p>\n<ul>\n<li>Scoliosis<\/li>\n<li>Kyphosis<\/li>\n<li>Enlarged liver and spleen<\/li>\n<li>Aortic regurgitation<\/li>\n<li>Hypermobile joints<\/li>\n<li>Cord compression<\/li>\n<li>Trouble hearing<\/li>\n<li>Heart disease<\/li>\n<li>Gluacoma<\/li>\n<\/ul>\n<p><strong>Physicalities:<\/strong><\/p>\n<ul>\n<li>Delayed growth<\/li>\n<li>Larger chest<\/li>\n<li>Knock knees<\/li>\n<li>Spinal curve<\/li>\n<li>Broad mouth<\/li>\n<\/ul>\n<\/div>\n\n    <\/div>\n        \n<\/div>\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-6\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-6\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-6\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-6\">\n                MPS VI (Maroteaux-Lamy syndrome)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-6\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\">Maroteaux-Lamy syndrome is an inherited disorder caused by the ARSB mutation. The ARSB gene is responsible for the production of the arylsufatase B enzyme that causes the degradation of glycosaminoglycans. When this gene is not present, glycosaminoglycans accumulate within lysosomes causing lysosomal storage conditions. Because the lysosomes regulate the storage, degradation, and digestion of cellular waste, the excessive accumulation causes vital organs and tissues to become inflamed and damaged. The continuous damage causes organ and tissue wasting that manifests as the symptoms seen in Margaux-Lamy syndrome.<\/p>\n<p>Maroteaux-Lamy syndrome is an autosomal recessive gene, meaning it occurs when both parents carry the gene mutation. Maroteaux-Lamy syndrome is seen in approximately 1 in every 250,000 to 600,000 births.<\/p>\n<p><strong>Symptoms of Margaux-Lamy syndrome:<\/strong><\/p>\n<ul>\n<li>Joint stiffness<\/li>\n<li>Heart disease<\/li>\n<li>Corneal clouding<\/li>\n<li>Deafness<\/li>\n<li>Breathing difficulty<\/li>\n<li>Enlarged liver and spleen<\/li>\n<li>Skeletal kyphosis and scoliosis<\/li>\n<\/ul>\n<p><strong>Physicalities:<\/strong><\/p>\n<ul>\n<li>Round facial features<\/li>\n<li>Developmental delays<\/li>\n<li>Short stature<\/li>\n<\/ul>\n<\/div>\n\n    <\/div>\n        \n<\/div>\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-7\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-7\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-7\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-7\">\n                MPS VII (Sly Syndrome)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-7\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\">Sly syndrome is an inherited disorder caused by a mutation in the GUSB gene. The GUSB gene is responsible for production of beta-glucuronidase. Beta-glucoronidase is an enzyme responsible for the degradation of glycosaminoglycan sugars. When this gene is not present, glycosaminoglycans accumulate within lysosomes causing lysosomal storage conditions. Because the lysosomes regulate the storage, degradation, and digestion of cellular waste, the excessive accumulation causes vital organs and tissues to become inflamed and damaged. The continuous damage causes organ and tissue wasting that manifests as the symptoms seen in Sly syndrome.<\/p>\n<p>Sly syndrome is an autosomal recessive gene, meaning it occurs when both parents carry the gene mutation. Sly syndrome is seen in approximately 1 in every 250,000 births.<\/p>\n<p><strong>Symptoms of Sly syndrome:<\/strong><\/p>\n<ul>\n<li>Hypermobile joints<\/li>\n<li>Corneal cloudiness<\/li>\n<li>Enlarged liver and spleen<\/li>\n<li>Hernia<\/li>\n<li>Hearing loss<\/li>\n<li>Respiratory infections<\/li>\n<li>Heart murmurs<\/li>\n<li>Hydrocephalus<\/li>\n<li>Aortic regurgitation<\/li>\n<\/ul>\n<p><strong>Physicalities:<\/strong><\/p>\n<ul>\n<li>Dwarfism<\/li>\n<li>Larger head<\/li>\n<li>Larger chest<\/li>\n<li>Short neck<\/li>\n<li>Flared ribs<\/li>\n<li>Club foot<\/li>\n<li>Macroglossia (enlarged tongue)<\/li>\n<li>*Scoliosis and kyphosis is rare<\/li>\n<li>Hirsutism<\/li>\n<\/ul>\n<\/div>\n\n    <\/div>\n        \n<\/div>\n\n<div class=\"panel panel-default oscitas-bootstrap-container\">\n\n    <div id=\"panel-heading-details-0-8\" class=\"panel-heading oscitas-bootstrap-container\" role=\"tab\">\n\n        <h3 class=\"panel-title oscitas-bootstrap-container\">\n\n            <button class=\"accordion-toggle oscitas-bootstrap-container collapsed\" \n                id = \"button-details-0-8\"\n                data-toggle=\"collapse\"\n                data-parent=\"#unc-accordion-0\"    \n                aria-controls=\"#details-0-8\"  \n                aria-expanded=\"false\" \n                href=\"#details-0-8\">\n                MPS IX (Natowicz syndrome\/hyaluronidase deficiency)            <\/button>\n\n        <\/h3>\n\n    <\/div>\n\n    <div id=\"details-0-8\" class=\"panel-collapse collapse  oscitas-bootstrap-container\">\n\n        <div class=\"panel-body oscitas-bootstrap-container\"> Natowicz syndrome is an inherited disorder caused a mutation in the HYAL1 gene. The HYAL1 gene is responsible for production of the hyaluronidase enzyme. Hyaraluronidase is critical in the break down hyaluronan, a glycosaminoglycan. When this gene is not present, glycosaminoglycans accumulate within the synovial fluid, skin, and cartilage manifesting as the symptoms of Natowicz syndrome.<\/p>\n<p>Natowicz syndrome is the rarest form of MPS.<\/p>\n<p><strong>Symptoms of Natowicz syndrome:<\/strong><\/p>\n<ul>\n<li>Joint pain and stiffness<\/li>\n<li>Cysts<\/li>\n<li>Gait<\/li>\n<li>Reduction in range of motion<\/li>\n<\/ul>\n<p><strong>Physicalities:<\/strong><\/p>\n<ul>\n<li>Developmental delays<\/li>\n<li>Flattened nose<\/li>\n<li>Cleft palate<\/li>\n<\/ul>\n<\/div>\n\n    <\/div>\n        \n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Dr. Muenzer&#8217;s Research Dr. Muenzer\u2019s research includes progressive brain disease in children with MPS II, also known as Hunter Syndrome, and developing new avenues of treatment for children with MPS, including clinical trials to test new forms of intravenous enzyme replacement therapy as well as alternative therapies, such as gene therapy and intrathecal drug delivery &hellip; <a href=\"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/what-is-mps\/\" aria-label=\"Read more about What is MPS?\">Read more<\/a><\/p>\n","protected":false},"author":112687,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"layout":"","cellInformation":"","apiCallInformation":"","footnotes":"","_links_to":"","_links_to_target":""},"class_list":["post-2290","page","type-page","status-publish","hentry","odd"],"acf":[],"_links_to":[],"_links_to_target":[],"_links":{"self":[{"href":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-json\/wp\/v2\/pages\/2290","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-json\/wp\/v2\/users\/112687"}],"replies":[{"embeddable":true,"href":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-json\/wp\/v2\/comments?post=2290"}],"version-history":[{"count":50,"href":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-json\/wp\/v2\/pages\/2290\/revisions"}],"predecessor-version":[{"id":4155,"href":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-json\/wp\/v2\/pages\/2290\/revisions\/4155"}],"wp:attachment":[{"href":"https:\/\/www.med.unc.edu\/pediatrics\/muenzer-mps-center\/wp-json\/wp\/v2\/media?parent=2290"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}